Indian Journal of Ophthalmology
Beighton P. Serious ophthalmological complications in the Ehlers-Danlos syndrome. Br J Ophthalmol 1970;54:263-8.
CUTIS hyperelastica Ehlers-Danlos syndrome with blue scleras, microcornea, and glaucoma. AMA Arch Ophthalmol 1953;49:220-1.
Pollack JS, Custer PL, Hart WM, Smith ME, Fitzpatrick MM. Ocular complications in Ehlers-Danlos syndrome type IV. Arch Opthalmol 1997;115:416-9. Akar A, G I D, Erdem Z, Sarathchandra P, Tysoe C, Pope M. Acrogeric Ehlers-Danlos syndrome type IV: Report of a new patient with additional findings. Eur J Dermatol 2002;12:428-31.
Ocular involvement in tumoral calcinosis Harsha Bhattacharjee, Kasturi Bhattacharjee1, Dina Kumar Yambem We report a 32-year-old male who presented with blurring of vision in the right eye since 1.5 years. He had history of swelling over the extensor surfaces of large joints which were migratory in nature. Few of them spontaneously subsided following suppuration of chalky white discharges except over the gluteal region. Ophthalmological examination revealed visual acuity of counting fingers (CF) at 1 m in the right eye and perilimbal conjunctival calcific deposits and retinal angiod streaks in both eyes. There was choroidal neovascular membrane with subretinal hemorrhage in right eye, confirmed by fundus fluorescein angiography (FFA) and optical coherence tomography (OCT). B scan ultrasonography and simultaneous vector A scan detected calcification of the subretinal neovascular membrane and the adjoining sclera. Key words: Angiod streaks, perilimbal calcification, scleral calcification, subretinal neovascular membrane, tumoral calcinosis
Introduction Tumoral calcinosis (TC) is a rare familial disorder of phosphate metabolism. It is characterized by single or multiple Access this article online Quick Response Code:
Website: www.ijo.in DOI: 10.4103/0301-4738.141063 PMID: ***
Departments of Comprehensive Ophthalmology, 1Orbit, Ophthalmic Plastic and Reconstructive Surgery, Sri Sankaradeva Nethralaya, Guwahati, Assam, India Correspondence to: Dr. Harsha Bhattacharjee, Sri Sankaradeva Nethralaya, 96, Basistha Road, Guwahati - 781 028, Assam, India. E-mail: [email protected]
Manuscript received: 02.11.12, Review completed: 15.08.13
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Mizuno K, Boudko S, Engel J, Bachinger HP. Vascular Ehlers-Danlos syndrome mutations in type III collagen diﬀerently stall the triple helical folding. J Biol Chem 2013;288:19166-76.
10. Pope FM, Narcisi P, Nicholls AC, Germaine D, Pals G, Richards AJ. COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. Br J Dermatol 1996;135:163-81. Cite this article as: Mitra A, Ramakrishnan R, Kader MA. Open angle glaucoma in a case of Type IV Ehler Danlos syndrome: A rarely reported association. Indian J Ophthalmol 2014;62:880-4. Source of Support: Nil. Conflict of Interest: None declared.
painless, lobular, well-demarcated periarticular soft tissue swelling/s. These are mostly distributed along the extensor surfaces of large joints due to ectopic deposition of calcium. In TC serum phosphate level is elevated with or without increase in level of serum 1,25-dihydroxy vitamin D and usually with normal serum calcium and parathyroid hormone levels. Genetically it is a posttranslational defect where autosomal recessive mutation had been reported to genes GALNT3 or fibroblast growth factor 23 (FGF 23). Ocular involvement in TC has been reported, but in Indian literature such report was not found (PubMed search - ocular tumoral calcinosis). We report a rare case of ocular involvement in TC where scleral calcification was its unique feature in addition to other findings.
Case Report A 32-year-old male presented with a history of acute and painless blurring of vision in right eye since 1.5 years. He had been suﬀering from multiple, migratory large joint swellings. All the swellings spontaneously subsided following suppuration of chalky white material and scar formation except over the gluteal region. Ophthalmological examination revealed best corrected visual acuity (BCVA) of counting fingers (CF) at 30 m in the right eye and 20/20 vision in the left eye. Slit lamp examination of the anterior segment detected perilimbal calcific deposits [Fig 1]. Ocular fundus examination revealed angiod streaks in both eyes and choroidal neovascular membrane with subretinal hemorrhage in the right eye [Fig 2]. Fundus fluorescein angiography (FFA) confirmed the above findings [Fig 3]. Spectral domain optical coherence tomography (OCT) also showed subretinal membrane and fluid in the macula in the right eye [Fig 4]. B scan ultrasonography with simultaneous vector A scan showed elevated macular area with high reflective echo, one each over the subretinal membrane and the sclera. These findings were suggestive of focal calcification of both the structures in the right eye [Fig 5]. Systemic examination revealed scoliosis, shortening, and deformity of the right upper limb and left lower limb. There were scars and multiple discharging cutaneous sinuses over both the gluteal folds [Fig 6]. A multilobulated swelling with shiny overlying skin was present over the right shoulder [Fig 7]. On physical examination, no findings suggestive of pseudoxanthoma elasticum, Ehlers-Danlos Syndrome, scleroderma, or dermatomyositis were found. X-ray pelvis and computed tomography (CT) scan of chest and pelvis
Figure 1: Perilimbal calcifications
Figure 2: Color montage photographs of the ocular fundi. (a) Right fundus showing angiod streaks with subretinal hemorrhage and neovascular membrane. (b) Left fundus showing the angiod streaks
Figure 3: (a and b) Fundus fluorescein angiogram showing angiod streaks in both eyes. Retinal hemorrhage is the cause of blocked fluorescence and hypofluorescence is due to subretinal neovascular membrane in the right eye
Figure 4: (a and b) Spectral domain optical coherence tomography (OCT) showing a big subretinal membrane and fluid in the macular region
Figure 5: B scan ultrasonography with vector A scan showing elevated macular area with (a) a high reflective echo over the surface and (b) another high reflective echo on the outer surface of the sclera with shadowing affect, suggesting focal calcification in the membrane and the sclera, respectively
Figure 6: Photograph of the dorsal aspect of the patient showing scars over both the elbow and the hip joints and the right scapula and multiple cutaneous discharging sinuses over the gluteal folds
Indian Journal of Ophthalmology
showed nodular calcifications in periarticular soft tissues, bilateral adrenal glands, and spleen [Figs 8-10]. On laboratory investigations, serum phosphate and serum calcium levels were 4.9 and 7.9 mg/dl, respectively. Renal function was normal. Based on the clinical features and radiological and laboratory findings, the condition was diagnosed as TC with ocular involvement.
Discussion TC is a rare systemic disorder. It is also known as Teutschlaender disease.  Inclan et al., differentiated the condition from dystrophic and metabolic calcifications and coined the term TC. In the present case, the radiological findings were typical of TC. Subject had high serum phosphate levels with normal renal function. However, serum calcium level was low and cystic spaces showing fluid levels, usually seen in TC, were not found in our present case. This was
Figure 7: Photograph of the ventral aspect of the right shoulder joint showing a lobulated fresh lesion with shiny skin
probably because of the healing stage of the disease. The lesions were homogenous without any adjoining osseous destruction suggesting a reduced metabolic activity, thereby excluding neoplasm. To our best knowledge (PubMed search), this is the first report of TC presenting with ocular manifestations in Indian literature. The case remained undiagnosed till the ophthalmic manifestations occurred. The systemic involvement started at 8 years of age and visual symptoms at 20.5 years of age, which is the usual age of ocular involvement. Except for scleral calcification, all other findings found in the present case like limbal calcific deposits, angiod streaks,[7,8] and subretinal neovascular membrane, have been reported in literature. Angiod streak in the retina may be related to GALNT3 or FGF23 gene mutation. Since sclera is a connective tissue, similar mechanism may also be responsible for calcification in the periarticular as well as scleral connective tissue. The other known causes of sclerochoroidal calcification
Figure 8: Plain X-ray pelvis showing multilobulated, well-demarcated, densely calcified masses (as indicated by arrows) confined to the soft tissue on the extensor surface of the hip joint and adjoining areas (both gluteal regions)
a Figure 9: Axial computed tomography (CT) chest showing nodular calcification between chest wall and the scapula (as indicated by the arrow). The lesion is predominantly homogenous suggesting lower metabolic activity
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Figure 10: (a) Axial CT pelvis and (b) volume-rendering technique (VRT) image showing extensive nodular calcifications (as indicated by arrows) surrounding the hip joints
like hyperparathyroidism, pseudohypoparathyroidism, and renal tubular acidosis were carefully excluded.
Considering the rarity of the case, diﬃculty in diagnosis and scleral calcification, which was a new finding, the present case has been reported.
Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, et al. Mutation in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet 2004;36:579-81.
Benet-Pages A, Orlik P, Strom TM, Lorenz-Depiereux B. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet 2005;14:385-90.
Barriere H, Welin J, Lenne Y, Visset J, Vigier P. Teutschlaender lipo-calcinogranulomatosis or tumoral calcinosis of Inclan (author’s transl). Ann Dermatol Venerol 1977;104:136-40.
Inclan A, Leon P, Camejo MG. Tumoral Calcinosis. J Am Med Asso 1943;121:490-5.
McGrath E, Harney F, Kinsella F. An ocular presentation of familial tumoral calcinosis. BMJ Case Rep 2010;2010:bcr0520103044.
Ghanchi F, Ramsay A, Coupland S, Barr D, Lee WR. Ocular tumoral calcinosis. A clinicopathologic study. Arch ophthalmol 1996;114:341-5.
Acknowledgment 1) Dr. P. Hatimota MD, and Dr. HS Das MD, DCCP, for providing X Ray and CT images 2) Dr. (Mrs) Hemlata Deka MS, for B scan ultrasonography 3) Dr. (Mrs) K. Gogoi MD, for biochemical studies 4) Mr. K. Patgiri for fundus fluorescein angiography 5) Mr. Priyanshu Talukdar for editing photographs
Oslen MK, Chew FS. Tumoral calcinosis: Pearls, polemics and alternative possibilities. Radiographics 2006;26:871-85.
Cite this article as: Bhattacharjee H, Bhattacharjee K, Yambem DK. Ocular involvement in tumoral calcinosis. Indian J Ophthalmol 2014;62:884-7.
Prince MJ, Schaeffer PC, Goldsmith RS, Chausmer AB. Hyperphosphatemic tumoral calcinosis: Association with elevation of serum 1, 25-dihydroxycholecalciferol concentrations. Ann Intern
Source of Support: Sri Sankaradeva Nethralaya, 96, Basistha Road, Guwahati, Assam.. Conflict of Interest: None declared
Aspergillus terreus endogenous endophthalmitis: Report of a case and review of literature
was complete resolution of the infection but visual acuity was poor due to macular scar. Aspergillus terreus is a rare cause of endophthalmitis with usually poor outcomes. Newer antifungals like Voriconazole can be sometimes associated with better prognosis.
Pradeep Kumar Panigrahi, Rupak Roy, Swakshyar Saumya Pal, Anjan Mukherjee, Aneesha Lobo
Key words: Aspergillus terreus, endogenous endophthalmitis, immunocompetent, subretinal abscess
We report a rare case of Aspergillus terreus endogenous endophthalmitis in an immunocompetent patient with subretinal abscess and also review the reported cases. A 50-year-old healthy male presented with sudden painful loss of vision in right eye. He was diagnosed with endogenous endophthalmitis and underwent urgent vitrectomy. Aspergillus terreus growth was obtained in culture. At final follow-up, there Access this article online Quick Response Code:
Website: www.ijo.in DOI: 10.4103/0301-4738.141065 PMID: ***
Department of Microbiology, Aditya Birla Sankara Nethralaya, Kolkata, West Bengal, India Correspondence to: Dr. Pradeep Kumar Panigrahi, Vitreo Retina Services, Aditya Birla Sankara Nethralaya, 147, E.M.Bypass, Kolkata - 700 099, West Bengal, India. E-mail: [email protected]
Manuscript received: 27.11.13; Revision accepted: 17.07.14
Fungal endogenous endophthalmitis is usually associated with immunocompromised states. Aspergillus terreus is a rare cause of endogenous endophthalmitis with only six reported cases.[1-6] We report a rare case of A terreus endogenous endophthalmitis in an immunocompetent patient and review the other cases which have been reported. This is the first case report of A terreus endogenous endophthalmitis from India.
Case Report A 50-year-old healthy non diabetic male presented with sudden painful decrease in vision in right eye (OD) since one week. The patient gave history of a bout of gastroenteritis 2 weeks back. On examination, best corrected visual acuity (BCVA) in OD was perception of light with accurate projection of rays. Anterior segment examination showed circumciliary congestion, corneal haze, anterior chamber cells 3+, clear lens, and 3+ vitreous cells. Intraocular pressure was 10 mm of Hg. Indirect ophthalmoscopy showed grade 3 vitritis with central yellowish sub retinal lesion [Fig. 1a]. The retina appeared attached. BCVA in the left eye was 6/6, N6. Left eye was normal. Ultrasonography confirmed the presence of a subretinal lesion. A provisional diagnosis of endogenous endophthalmitis in OD was made and the patient was advised urgent surgical intervention. A complete systemic examination which included HIV testing, urine, and blood culture along with a physician evaluation was done.
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